Linked Data
ClinVar Variation Id:
371358
ClinVar RCV Id:
RCV000411331
dbSNP Id:
rs1057517210
gnomAD v2:
11-71150130-C-T
gnomAD v3:
11-71439084-C-T
gnomAD v4:
11-71439084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71439084C>T , CM000673.2:g.71439084C>T | GRCh38 |
| NC_000011.9:g.71150130C>T , CM000673.1:g.71150130C>T | GRCh37 |
| NC_000011.8:g.70827778C>T | NCBI36 |
| NG_012655.2:g.14348G>A , LRG_340:g.14348G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.627-1G>A | ENSP00000435707.3:n.627-1G>A | |
| ENST00000526780.6:c.627-1G>A | ENSP00000435668.2:n.627-1G>A | |
| ENST00000527316.6:c.453-1G>A | ENSP00000435047.2:n.453-1G>A | |
| ENST00000682708.1:c.678-1G>A | ENSP00000506866.1:n.678-1G>A | |
| ENST00000682880.1:c.627-1G>A | ENSP00000507520.1:n.627-1G>A | |
| ENST00000683287.1:c.663-1G>A | ENSP00000507607.1:n.663-1G>A | |
| ENST00000683714.1:c.627-1G>A | ENSP00000508207.1:n.627-1G>A | |
| ENST00000684396.1:n.666G>A | ||
| ENST00000685320.1:c.42-1G>A | ENSP00000509319.1:n.42-1G>A | |
| ENST00000690257.1:c.531-1G>A | ENSP00000510750.1:n.531-1G>A | |
| ENST00000355527.8:c.627-1G>A MANE Select | ENSP00000347717.4:n.627-1G>A | |
| ENST00000355527.7:c.627-1G>A | ENSP00000347717.3:n.627-1G>A | |
| ENST00000407721.6:c.627-1G>A | ENSP00000384739.2:n.627-1G>A | |
| ENST00000527316.5:c.531-1G>A | ENSP00000435047.1:n.531-1G>A | |
| ENST00000534701.1:n.122-1G>A | ||
| NM_001163817.1:c.627-1G>A | NP_001157289.1:n.627-1G>A | |
| NM_001360.2:c.627-1G>A , LRG_340t1:c.627-1G>A | NP_001351.2:n.627-1G>A | |
| XM_011544777.1:c.627-1G>A | XP_011543079.1:n.627-1G>A | |
| XM_011544777.2:c.627-1G>A | XP_011543079.1:n.627-1G>A | |
| NM_001163817.2:c.627-1G>A | NP_001157289.1:n.627-1G>A | |
| NM_001360.3:c.627-1G>A MANE Select | NP_001351.2:n.627-1G>A |